As Intersex Awareness Day is on October 26th, it is now more important than ever to support intersex people, learn more about intersex conditions, and advocate for the well-being of intersex people. Turner Syndrome (TS) is an intersex condition that affects people assigned female at birth (AFAB) and occurs from the production of the sperm and egg cells that conceive the affected person. Turner Syndrome occurs in 1 in every 2000 to 2500 AFAB births. This error results in the affected person’s sex chromosomes, the X and Y chromosomes, being solely X and not XX. Sometimes, this is referred to as 45X compared to the normal number of chromosomes, 46XX, for an AFAB person. Turner Syndrome impacts almost all body systems, not solely the reproductive system, and has a variety of symptoms and presentations.
Turner Syndrome - Weebly
As mentioned above, Turner Syndrome is a genetic condition one is born with. This genetic change occurs as a result of errors in meiosis. Meiosis is the production of sperm and egg cells that combine during fertilization (and develop into a baby). Sperm and egg cells are “haploid” cells, meaning they have 23 chromosomes rather than the usual 46 chromosomes our other cells have. Abnormalities in meiosis can result in some sperm or egg cells having less DNA than others; this is called nondisjunction. One cell, either the sperm or the egg, lacks a chromosome or has an incomplete chromosome. This results in the zygote (the fertilized egg) lacking the necessary components to have two sex chromosomes, either XX or XY. In some TS cases, the zygote has an incomplete, nonfunctional portion of the Y chromosome. In rare occasions, TS is inherited from the person’s mother. More commonly, some of the cells in the person’s body have Turner Syndrome (45X) and some do not (46XX). This is called Mosaic Turner Syndrome. Regardless of how each Turner Syndrome case occurs, some or all of the person’s cells will be 45X. One X chromosome is required for survival because it has important genes that are unrelated to sex determination; if the person had no X chromosomes or was 45Y, they would not survive.
Symptoms of Turner Syndrome vary from person to person. Diagnosis can occur during pregnancy or after birth as a result of TS symptoms impacting one’s life. chorionic villus sampling (an evaluation of placental cells) or amniocentesis (amniotic fluid sampling) can diagnose Turner Syndrome prenatally. Furthermore, symptoms can change across the person’s lifetime, thus it’s important to be aware of them. TS symptoms include:
Short stature
Underdeveloped ovaries (ovarian hypoplasia)
No menstrual periods (amenorrhea)
Lower-than-average height (4’8” average)
Underdeveloped lower jaw
Broad chest
Webbed neck
Flat feet
Abnormal digit development in specific digits (fingers or toes)
Moles on the skin (nevi)
Low hairline at the nape of the neck
Other associated diseases occurring, including:
Hashimoto’s Disease
Congenital cardiovascular abnormalities
Inflammatory Bowel Disease (Crohn’s Disease, Colitis)
Celiac Disease (autoimmune reaction to gluten)
Scoliosis
Osteoporosis
Hearing loss
Frequent middle ear infections (otitis media)
Drooping eyelids (ptosis)
Crossed eyes (strabismus)
Kidney absence or other kidney problems
Lymphedema
Learning disabilities
Type 2 diabetes
Individuals with TS have a slightly reduced life expectancy but can live a full life with the proper medical and psychosocial care to navigate living with TS. It is important to note that Turner Syndrome largely occurs at random; a family history of TS (other than the rare cases of mothers with TS conceiving children with TS) plays no role in one’s likelihood of having TS. Available treatments for TS consist of treating its symptoms, including hormone replacement therapy to complete female puberty and human growth hormone supplementation to grow taller.
Lastly, intersex individuals comprise 1.7% of the global population, thus being intersex is more common than many people think due to the stigma surrounding intersex identity. Let’s work this October to bring awareness to the unique needs of those with Turner Syndrome and the intersex community as a whole. Learn more about Turner Syndrome here: https://turnersyndromefoundation.org/
References
NHS. Overview - turner syndrome. NHS. Published 2019. Accessed September 30, 2024. https://www.nhs.uk/conditions/turner-syndrome/
National Institute of Child Health and Human Development. What causes Turner syndrome? https://www.nichd.nih.gov/. Published 2021. https://www.nichd.nih.gov/health/topics/turner/conditioninfo/causes
Mayo Clinic Staff. Turner syndrome - symptoms and causes. Diseases & Conditions. Published November 18, 2017. https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782
National Human Genome Research Institute. Meiosis. Genome.gov. Published 2020. https://www.genome.gov/genetics-glossary/Meiosis
United Nations Human Rights Office of the High Commissioner. Intersex people. OHCHR and the Human Rights of LGBTQI People. Accessed September 30, 2024. https://www.ohchr.org/en/sexual-orientation-and-gender-identity/intersex-people Assessed and Endorsed by the MedReport Medical Review Board